{"id":59,"date":"2015-05-20T09:55:46","date_gmt":"2015-05-20T08:55:46","guid":{"rendered":"http:\/\/127.0.0.1\/projects\/afg\/?page_id=59"},"modified":"2021-01-28T19:04:51","modified_gmt":"2021-01-28T18:04:51","slug":"type-vii-maladie-de-tarui","status":"publish","type":"page","link":"https:\/\/www.glycogenoses.org\/st_qlfctn\/les-glycogenoses\/type-vii-maladie-de-tarui\/","title":{"rendered":"Type VII : Maladie de Tarui"},"content":{"rendered":"<p><section id=\"bt_section69f3a252659d2\"  class=\"boldSection btDivider topSemiSpaced bottomSemiSpaced btDarkSkin gutter inherit\" style=\"background-color:#0cb8b6;\"><div class=\"port\"><div class=\"boldCell\"><div class=\"boldCellInner\"><div class=\"boldRow  \" ><div class=\"boldRowInner\"><div class=\"rowItem col-md-12 col-ms-12  btTextLeft animate animate-fadein animate-moveleft inherit btDoublePadding\"  ><div class=\"rowItemContent\" ><header class=\"header btClear large btDash bottomDash  btNormalDash\" ><div class=\"btSuperTitle\">Les Glycog\u00e9noses<\/div><div class=\"dash\"><h2><span class=\"headline\"><em>Type VII : Maladie de Tarui<\/em><\/span><\/h2><\/div><\/header><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section><section id=\"bt_section69f3a25265bb4\"  class=\"boldSection topSemiSpaced bottomSpaced gutter inherit\" style=\"background-color:#f1f1f1;\"><div class=\"port\"><div class=\"boldCell\"><div class=\"boldCellInner\"><div class=\"boldRow  \" ><div class=\"boldRowInner\"><div class=\"rowItem col-md-12 col-ms-12  btTextLeft animate animate-fadein inherit btDoublePadding\"  ><div class=\"rowItemContent\" ><div class=\"boldRow boldInnerRow  \" ><div class=\"rowItem rowInnerItem col-md-12  btTextLeft\"  ><div class=\"rowItemContent\"><div class=\"btText\" ><\/p>\n<ul>\n<li>Glycog\u00e9nose se manifestant par une intol\u00e9rance \u00e0 l\u2019effort.<\/li>\n<li>Maladie qui reste exceptionnelle et qui ne touche que quelques patients en France.<\/li>\n<\/ul>\n<p>\n<\/div><\/div><\/div><\/div><div class=\"btClear btSeparator bottomSmallSpaced noBorder\" ><hr><\/div><div class=\"btTabs tabsVertical \" \" data-open-first=\"\"><ul class=\"tabsHeader\"><li><span>Pr\u00e9sentation scientifique<\/span><\/li><\/ul><div class=\"tabPanes accordionPanes\"><div class=\"tabPane\">\r\n\t\t\t<div class=\"tabAccordionTitle\"><span>Pr\u00e9sentation scientifique<\/span><\/div>\r\n\t\t\t<div class=\"tabAccordionContent\"><\/p>\n<p>\u2013 <strong>La glycog\u00e9nose de type VII (maladie de Tarui) est rare (environ 30 cas) et touche principalement les Japonais et les juifs ashk\u00e9nazes<\/strong>. Elle est due au d\u00e9ficit en isoenzyme musculaire de la phosphofructokinase, enzyme clef de la r\u00e9gulation de la glycolyse ana\u00e9robie, qui comporte trois isoenzymes (muscle, foie et plaquettes).<\/p>\n<p>\u2013 Les malades pr\u00e9sentent un syndrome d\u2019intol\u00e9rance musculaire \u00e0 l\u2019effort, plus s\u00e9v\u00e8re que dans le type V et sans ph\u00e9nom\u00e8ne de second souffle : fatigue, vomissements, faiblesse musculaire, myalgies, crampes et myoglobinurie. Il s\u2019y associe une h\u00e9molyse compens\u00e9e (augmentation de la bilirubine et des r\u00e9ticulocytes) et une hyperuric\u00e9mie. Il existe, en outre, une forme n\u00e9onatale rapidement fatale (6 familles).<\/p>\n<p>\u2013 <strong>Le diagnostic biologique repose sur la mise en \u00e9vidence d\u2019une surcharge en glycog\u00e8ne de structure anormale et du d\u00e9ficit enzymatique (1 \u00e0 33% d\u2019activit\u00e9 r\u00e9siduelle) dans une biopsie de muscle (alors que l\u2019activit\u00e9 dans les \u00e9rythrocytes est sup\u00e9rieure \u00e0 50%)<\/strong>.<\/p>\n<p>\u2013 La transmission est r\u00e9cessive autosomique, bien que quelques cas de pseudodominance ou d\u2019h\u00e9t\u00e9rozygotes symptomatiques aient \u00e9t\u00e9 rapport\u00e9s. <strong>Le g\u00e8ne a \u00e9t\u00e9 localis\u00e9 sur le chromosome 1 (1q) et 15 mutations ont \u00e9t\u00e9 identifi\u00e9es.<\/strong> Le traitement consiste \u00e0 \u00e9viter les exercices intenses. Les glucides induiraient une diminution des performances (li\u00e9e \u00e0 la diminution des acides gras libres et des corps c\u00e9toniques).<\/p>\n<p>\n<\/div>\r\n\t\t<\/div><\/div><\/div><div class=\"btTabs tabsVertical \" \" data-open-first=\"\"><ul class=\"tabsHeader\"><li><span>Signes de la maladie<\/span><\/li><\/ul><div class=\"tabPanes accordionPanes\"><div class=\"tabPane\">\r\n\t\t\t<div class=\"tabAccordionTitle\"><span>Signes de la maladie<\/span><\/div>\r\n\t\t\t<div class=\"tabAccordionContent\"><\/p>\n<ul>\n<li>An\u00e9mie (Signe tr\u00e8s fr\u00e9quent)<\/li>\n<li>Myotonie (Signe tr\u00e8s fr\u00e9quent)<\/li>\n<li>Anomalie du m\u00e9tabolisme (Signe tr\u00e8s fr\u00e9quent)<\/li>\n<li>Transmission autosomique r\u00e9cessive (Signe tr\u00e8s fr\u00e9quent)<\/li>\n<li>Hyperuric\u00e9mie (Signe fr\u00e9quent)<\/li>\n<li>Amyotrophie \/ muscle agen\u00e9sie (Signe fr\u00e9quent)<\/li>\n<\/ul>\n<p>\n<\/div>\r\n\t\t<\/div><\/div><\/div><div class=\"btTabs tabsVertical \" \" data-open-first=\"\"><ul class=\"tabsHeader\"><li><span>Diagnostic<\/span><\/li><\/ul><div class=\"tabPanes accordionPanes\"><div class=\"tabPane\">\r\n\t\t\t<div class=\"tabAccordionTitle\"><span>Diagnostic<\/span><\/div>\r\n\t\t\t<div class=\"tabAccordionContent\"><\/p>\n<p>\u2013 L\u2019examen de l\u2019effort par spectroscopie RMN ou phosphore 31 est susceptible de contribuer \u00e0 l\u2019\u00e9tablissement du diagnostic en montrant notamment dans la maladie de Taruiun pic de sucres phosphat\u00e9s qui n\u2019ont pu \u00eatre normalement d\u00e9grad\u00e9s.<\/p>\n<p>\u2013 Ce sont en fait les dosages enzymatiques effectu\u00e9s sur les globules rouges ou sur le muscle qui permettent de poser un diagnostic pr\u00e9cis.<\/p>\n<p>\n<\/div>\r\n\t\t<\/div><\/div><\/div><div class=\"btClear btSeparator topSmallSpaced bottomSmallSpaced border\" ><hr><\/div><div class=\"btIconImageRow btTextRight btIconsNormalPosition\" ><span class=\"btIco btIcoOutlineType btIcoSmallSize btIcoAccentColor   \" ><a href=\"https:\/\/www.facebook.com\/groups\/340091143124748\"  target = \"_blank\" data-ico-fa=\"&#xf09a;\" class=\"btIcoHolder\"><em><\/em><\/a><\/span><span class=\"btIco btIcoOutlineType btIcoSmallSize btIcoAccentColor   \" ><a href=\"mailto:secretariat@glycogenoses.org\"  target = \"no_target\" data-ico-fa=\"&#xf0e0;\" class=\"btIcoHolder\"><em><\/em><\/a><\/span><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/div><\/section><\/p>\n","protected":false},"excerpt":{"rendered":"","protected":false},"author":7,"featured_media":0,"parent":10,"menu_order":9,"comment_status":"closed","ping_status":"closed","template":"","meta":[],"_links":{"self":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/59"}],"collection":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/users\/7"}],"replies":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/comments?post=59"}],"version-history":[{"count":5,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/59\/revisions"}],"predecessor-version":[{"id":1875,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/59\/revisions\/1875"}],"up":[{"embeddable":true,"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/pages\/10"}],"wp:attachment":[{"href":"https:\/\/www.glycogenoses.org\/st_qlfctn\/wp-json\/wp\/v2\/media?parent=59"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}